CDH3 gene related symptoms and diseases
All the information presented here about the CDH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDH3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Macular degeneration | Very Common - Between 80% and 100% cases |
| Abnormality of the dentition | Very Common - Between 80% and 100% cases |
| Macular dystrophy | Very Common - Between 80% and 100% cases |
| Hypotrichosis | Very Common - Between 80% and 100% cases |
| Ectodermal dysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDH3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sparse scalp hair
Not very common - Between 30% and 50% cases
- Short stature
- Camptodactyly
- Retinopathy
- Finger syndactyly
- Carious teeth
- Microdontia
- Split hand
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDH3 gene
Here you will find a list of rare diseases related to the CDH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION
Alternate names
HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION Is also known as hypotrichosis with juvenile macular dystrophy, hypotrichosis with cone-rod dystrophy, hjmd
Description
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Most common symptoms of HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION
- Short stature
- Nystagmus
- Blindness
- Abnormality of the dentition
- Alopecia
More info about HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION
EEM SYNDROME
Alternate names
EEM SYNDROME Is also known as eem syndrome, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Description
EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
Most common symptoms of EEM SYNDROME
- Strabismus
- Abnormality of the dentition
- Syndactyly
- Abnormality of the eye
- Camptodactyly
More info about EEM SYNDROME
Search interest in CDH3
Potential gene panels for CDH3 gene
Macular Degeneration Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1
More info about this panel United States.
CDH3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDH3 gene.
More info about this panel Spain.
Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel
Portugal.
By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4
More info about this panel Portugal.
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDH3 gene.
More info about this panel Portugal.
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3
More info about this panel United States.
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CDH3 gene.
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Stargardt Disease and Macular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12
More info about this panel Germany.
Single gene testing CDH3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CDH3 gene.
More info about this panel Germany.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Stargardt Panel Panel
United States.
By Molecular Vision Laboratory Stargardt Panel that also includes the following genes: TIMP3 BEST1 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 DRAM2 EFEMP1 ABCA4
More info about this panel United States.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
STARGARDT SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4
More info about this panel Spain.
Ectodermal dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ectodermal dysplasia that also includes the following genes: TRAF6 WNT10A EDARADD TP63 CDH3 EDA2R EDAR EDA GJB6 IKBKG
More info about this panel Spain.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4
More info about this panel United States.
Limb Malformation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel that also includes the following genes: TP63 CDH3
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
CDH3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDH3 gene.
More info about this panel United States.
Ectodermal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
More info about this panel Finland.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Macular Dystrophy Panel Panel
Finland.
By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3
More info about this panel Finland.
Ectodermal dysplasia - ectrodactyly - macular dystrophy Panel
Spain.
By Bioarray
This panel specifically test the CDH3 gene.
More info about this panel Spain.
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CDH3 gene.
More info about this panel Spain.
Ectrodactyly-Macular Dystrophy-Ectodermal Dysplasia (EEM Syndrome), Sequencing CDH3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CDH3 gene.
More info about this panel Spain.
Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: WNT10A EDARADD TP63 CDH3 EDAR EDA GJB6 IKBKG NFKBIA
More info about this panel Spain.
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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